Article
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
Archivos de la Sociedad Espanola de Oftalmologia - 1 Feb 2003
Girós M, Bóveda M D, Vázquez de la Cruz A, Lázaro P, Gata A, Solar Boga A, Briones P
Abstract excerpt
OBJECTIVE/METHOD: To alert about galactokinase deficiency (GK) as a possible cause of infantile cataracts, and even presenile cataracts in heterozygous carriers. Diagnosis by enzyme and galactitol determination would lead to the introduction of a galactose-free diet which completely prevents the damage. RESULT/CONCLUSIONS: We report on a highly consanguineous Spanish family of gypsy ethnia, with three females of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.